Objective:To investigate the familial inheritances, clinical features, treatments and outcomes of familial Waldenstrom macroglobulinemia (WM) patients.Methods:The clinical manifestations, laboratory examinations, diagnosis and treatments, and follow-up data of 6 familial WM patients who were admitted to Yancheng No.1 People's Hospital from June 2002 to July 2019 were retrospectively analyzed, and the literature was reviewed.Results:Among 6 WM patients, 4 patients had dizziness and fatigue at the onset, 1 patient had recurrent low-grade fever and abnormal sweating as the first manifestations, 1 patient was hospitalized due to pulmonary infection, and WM was found later. Two brothers of the patients were diagnosed with WM, another 2 brothers of the patients had IgM-type monoclonal gammopathy of undetermined significance (MGUS) during the physical examination. All the 6 patients were middle-aged/elderly men, with a median age of 63 years old (51-70 years old). The median follow-up time were 71.5 months (4-217 months), and by the end of the follow-up (June 2020), 2 cases died of pulmonary infection, and 1 of them developed acute myeloid leukemia; the other 4 cases were in regular chemotherapy. Two IgM-MGUS patients were followed up without symptoms.Conclusions:WM patients have familial aggregation, and their clinical manifestations are highly heterogeneous. Patients with family history may have poor prognosis. It is necessary to strengthen the awareness of WM and family history screening.

Objective To investigate the epidemiology and pathogenic characteristics of enterovirus in children with hand, foot and mouth disease (HFMD) in Guangyuan area, and to provide a basis for the development of HFMD prevention and control strategies. Methods A total of 759 children with HFMD clinically diagnosed in Guangyuan area from January 2019 to January 2021 were randomly selected. The seasonal, age, gender, regional distribution and pathogen distribution characteristics of HFMD were analyzed by descriptive epidemiological methods. Results The incidence of HFMD was seasonal and presented a typical bimodal distribution, with the summer peak occurring from April to July (χ²=8.714, P<0.05) and the winter peak from October to December (χ²=7.542, P<0.05). There was a significant difference in the incidence rate between regions, and the incidence rate in urban areas was much higher than that in rural areas (χ²=5.915, P<0.05). P < 0.05). The male-female incidence ratio was 1.63:1. The high incidence group of HFMD was children younger than 5 years old, and the number of reported cases was 730. The high incidence age group was 1-3 years old (χ²=8.455, P<0.05). The incidence rate of HFMD in all age groups ≤5 years old was higher in male than female, and the difference was statistically significant (χ²=5.174, P<0.05). A total of 388 HFMD cases were tested positive for viral nucleic acid, with a positive rate of 51.12%, In mild cases, Cox A16, EV71, and other enteroviruses accounted for 27.64%, 29.54% and 29.54%, respectively. The proportion of EV71 in severe cases was 89.47%. Conclusion HFMD is widely distributed in Guangyuan area, with obvious seasonal and population differences. The prevention and control of HFMD should be strengthened in key areas, high incidence seasons and key populations, and the vaccination of children ≤3 years old should be further promoted to prevent the outbreak of HFMD.

Objective To explore the relationship of KCNQ1 rs2237892 polymorphism with type 2 diabetes mellitus(T2DM) in Hefei. Methods A total of 104 healthy individual(control group) and 84 patients with T2DM(T2DM group) were enrolled. The rs2237892 polymorphism KCNQ1 gene was detected by PCR-RFLP. The genetype, allele frequency, related clinical and biochemical data were compared between the two groups. Results There were no significant differences in alleles or genotype frequencies of KCNQ1 rs2237892 gene among control group and T2DM group. The result of Logistic regression analysis showed that the risk of T2DM in the subjects with CT genetype of rs2237892 was 1. 44 times of those with CC genotype(OR =1.44, 95％ CI: 1. 06 ～ 1. 95, P=0. 02). Conclusion KCNQ1 rs2237892 gene may be the susceptibility gene of T2DM in Hefei.

Objective:To evaluate the relationship between the phthalate ester exposure and the population obesity with Meta-analysis, and to provide a new idea for prevention and control of obesity. Methods:A comprehensive search was performed in English databases (Pubmed, Web of Science, The Cochrane Library, Elsevier Science Direct and OVID) and Chinese databases (Sinomed database, CNKI database, VIP database, Wanfang database).The studies about the relationship between phthalate ester exposure and the population obesity were retriveded.The Chinese and English studies were selected according to the inclusion criteria and exclusion criteria.Meta-analysis was performed using RevMan 5.3 software.Results:Six studies were finally obtained, involving 1259 samples.The Meta-analysis results showed that the monobutyl phthalate (MBP) level in urine of the obesity population was increased 4.1 times compared with the normal population (95%CI:1.43-6.76);while the combined effect values of dibutyl phthalate (DBP), di-2-ethylhexyl phthalate (DEHP) and diethyl phthalate (DEP) level in serum of the population in two groups were 1.17 (95%CI:0.64-1.69), 0.80 (95%CI:0.13-1.48), and 0.72 (95%CI:-0.19-1.63);the combined effect values of monoethylhexyl phthalate (MEHP) and monoethyl phthalate (MEP) levels in urine were 1.75 (95%CI:-0.45-3.96) and 2.75 (95%CI: 0.36-5.15);there were no significant differences (P>0.05).Conclusion:The elevated MBP levels in the urine may be a risk factor for obesity in the population, suggesting that MBP may contribute to obesity.

Objective To evaluate the impact of total parenteral nutrition(TPN)on nutrition status and inflammatory markers in hospitalized fasted patients with inflammatory bowel disease(IBD).Methods A retrospective study was performed and 82 hospitalized fasted IBD patients [male/female=58/24,(39.4±14.5)years] who received TPN entered the study.Among them,38 patients had ulcerative colitis(UC)and 44 patients suffered from Crohn`s disease(CD).Clinical data(gender,age,duration of disease,history of disease,prednisone,immuno-suppressor,and antibiotics)were obtained from medical records.Nutritional parameters,C-creative protein(CRP),and erythrocyte sedimentation rate(ESR)before and after TPN were also obtained.Average caloric supplementation by TPN was(4 437.3±1 199.1)kJ/d and the nitrogen amount was(9.9±1.7)g/d.Median PN length was 15 days(7-54 days).67 IBD patients received a TPN formula with glutamine(≥14 d,25 patients vs.0-14 d,42 patients)and 15 IBD subjects received TPN without glutamine.Malnutrition was diagnosed by body mass index(BMI)and serum albumin level.Results The prevalence of undernutrition was 90.2％(74/82)in the study population.CD patients had a significantly longer history of disease [84(3-288)months vs.24(1-324)months,P<0.001] and a significantly lower BMI [(15.6±1.8)kg/m2 vs.(19.1±3.5)kg/m2,P<0.001] compared with those in UC patients.TPN improved nutritional parameters [serum albumin:(28.7±6.6)g/L before TPN vs.(31.7±5.8)g/L after TPN,P<0.001;pre-albumin:(174.1±85.5)mg/L before TPN vs.(227.2±82.8)mg/L after TPN,P<0.001].Conclusions TPN improves nutritional status in hospitalized fasted IBD patients.However,prospective randomized controlled trials are required to estimate the role of low-to-middle dosage of glutamine in IBD patients.

Objective To study the influencing factors of raised D-dimer levels in elderly people.Methods 592 elderly people underwent physical examination in our hospital were selected.They were divided into observation group and control group according to the level of D-dimer.The clinical data,liver and kidney function and blood lipid levels between both groups were compared.Re-sults There were no significant difference on gender,BMI,FBG,ALT,AST and Cr between both groups (P >0.05),but the age of patients in the observation group were significantly higher than that of the control group(P <0.05).The PT,CRP,bacterial pneu-monia and (or)of acute exacerbations of chronic bronchitis,cancer,diabetes patients in the observation group were significantly higher than those in control group,while LDL-C,TC were significantly lower than that of the control group,there were significant differences (P <0.05).The plasma D-dimer level in patients showed positive correlation with CRP and age (r =0.27,0.25,P <0.05).Conclusion Malignant tumor,type 2 diabetes,bacterial pneumonia,acute exacerbation of chronic bronchitis are the risk fac-tors of raised plasma D-dimer levels in the elderly.

Assessment mode is a bottleneck in medical education reform nowadays.Although traditional assessment tools,such as written examination,are still widely used in medical education assessments,they have obvious limitations.With the enhancement of requirements in physicians' abilities,assessments on some basic abilities of physicians are still insufficient.The United States and Europe not only focus on the curriculum reform but also the development of appropriate assessment tools,therefore,some new assessment tools are invented.These assessment tools are applicable to the formative assessment and are student-centered,being able to promote the development of education and provide new options for medical education assessments.

Objective Through comparision of Her-2 gene in invasive breast carcinoma tissues assayed by IHC, CISH and FISH respectively, to explore an optimal detective methods. MethodsIHC, CISH and FISH were used in detection for Her-2 gene of 100 cases, respectively.ResultsCISH identified no Her-2 gene amplification in IHC score negative rumors (6/6) and gene amplication in 7.1%(1/14) of IHC score (+) and in 32 % of IHC score (++) tumors(l6/50) and in 80 % of IHC score (+++) (24/80), Concordant rate between CISH and FISH was 100 %(20/20). ConclusionThere are advantage and disadvantage among IHC,CISH and FISH. CISH is an accurate and dependable methods and would be easy to apply for detection of Her-2 gene.

Objective To investigate the incidence of trisomy 12(+12) and 11 q23 deletion [ del ( 11q23) ] in chronic lymphocyticleukemia (CLL). Methods Fluorescein labeled DNA probe 12 and sequence specific probe ATM for 11q23 were used to perform inter-phase fluorescence in situ hybridization (I-FISH) assays in 30 patients with CLL. The results were compared with that of conventional cyto-genetic (CC) examination. Results With CC examination , only 4 cases (13.3%) were found to have chromosomal abnormalities, whereaswith I-FISH assay ,8 cases (26.7%) were found to have genomic aberrations, including trisomy 12 in 5 cases , deletion of 11q23 in 3 ca-sea. Conclusion I-FISH is a useful method for detection of genomie aberration in CLL, the significance of trisomy 12 and del (11q23) inpredicting the prognosis of B-CLL need to be investigated further.